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O43734 (CIKS_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 128. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Adapter protein CIKS
Alternative name(s):
Connection to IKK and SAPK/JNK
Nuclear factor NF-kappa-B activator 1
Short name=ACT1
TRAF3-interacting protein 2
Gene names
Name:TRAF3IP2
Synonyms:C6orf2, C6orf4, C6orf5, C6orf6
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length574 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Could be involved in the activation of both NF-kappa-B via a NF-kappa-B inhibitor kinase (IKK)-dependent mechanism and stress-activated protein kinase (SAPK)/JNK.

Subunit structure

Interacts with IKBKG/NF-kappa B essential modulator, with CHUK/IKK-alpha and with IKBKB/IKK-beta. Interacts with TRAF6. Ref.9

Tissue specificity

Widely expressed.

Involvement in disease

Psoriasis 13 (PSORS13) [MIM:614070]: A common, chronic inflammatory disease of the skin with multifactorial etiology. It is characterized by red, scaly plaques usually found on the scalp, elbows and knees. These lesions are caused by abnormal keratinocyte proliferation and infiltration of inflammatory cells into the dermis and epidermis.
Note: Disease susceptibility is associated with variations affecting the gene represented in this entry. Ref.10 Ref.11

Candidiasis, familial, 8 (CANDF8) [MIM:615527]: A primary immunodeficiency disorder with altered immune responses and impaired clearance of fungal infections, selective against Candida. It is characterized by persistent and/or recurrent infections of the skin, nails and mucous membranes caused by organisms of the genus Candida, mainly Candida albicans.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.12

Sequence similarities

Contains 1 SEFIR domain.

Sequence caution

The sequence BAB15507.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.

Alternative products

This entry describes 5 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: O43734-1)

Also known as: C6ORF4;

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.
Isoform 2 (identifier: O43734-2)

Also known as: C6ORF5; C6ORF6;

The sequence of this isoform differs from the canonical sequence as follows:
     1-9: Missing.
Isoform 3 (identifier: O43734-3)

The sequence of this isoform differs from the canonical sequence as follows:
     1-421: Missing.
Isoform 4 (identifier: O43734-4)

The sequence of this isoform differs from the canonical sequence as follows:
     1-465: Missing.
Isoform 5 (identifier: O43734-5)

The sequence of this isoform differs from the canonical sequence as follows:
     1-9: Missing.
     463-463: Missing.
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 574574Adapter protein CIKS
PRO_0000089751

Regions

Domain409 – 550142SEFIR
Region1 – 256256Mediates interaction with TRAF6

Natural variations

Alternative sequence1 – 465465Missing in isoform 4.
VSP_040374
Alternative sequence1 – 421421Missing in isoform 3.
VSP_035733
Alternative sequence1 – 99Missing in isoform 2 and isoform 5.
VSP_004163
Alternative sequence4631Missing in isoform 5.
VSP_047098
Natural variant191D → N in PSORS13; there is a reducing binding of this variant to TRAF6. Ref.10 Ref.11
Corresponds to variant rs33980500 [ dbSNP | Ensembl ].
VAR_047349
Natural variant831R → W.
Corresponds to variant rs13190932 [ dbSNP | Ensembl ].
VAR_031227
Natural variant3321H → Q. Ref.2 Ref.4 Ref.5 Ref.7 Ref.8
Corresponds to variant rs1043730 [ dbSNP | Ensembl ].
VAR_024307
Natural variant5361T → I in CANDF8; abolishes homotypic interactions with the SEFIR domain of IL17RA, IL17RB and IL17RC; does not affect homodimerization; does not affect SEFIR-independent interactions with other proteins. Ref.12
VAR_070904

Experimental info

Sequence conflict3341E → D in AAG15407. Ref.3
Sequence conflict3471P → S in AAF67447. Ref.1

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 (C6ORF4) [UniParc].

Last modified January 11, 2011. Version 3.
Checksum: 4985795466D71422

FASTA57464,666
        10         20         30         40         50         60 
MPPQLQETRM NRSIPVEVDE SEPYPSQLLK PIPEYSPEEE SEPPAPNIRN MAPNSLSAPT 

        70         80         90        100        110        120 
MLHNSSGDFS QAHSTLKLAN HQRPVSRQVT CLRTQVLEDS EDSFCRRHPG LGKAFPSGCS 

       130        140        150        160        170        180 
AVSEPASESV VGALPAEHQF SFMEKRNQWL VSQLSAASPD TGHDSDKSDQ SLPNASADSL 

       190        200        210        220        230        240 
GGSQEMVQRP QPHRNRAGLD LPTIDTGYDS QPQDVLGIRQ LERPLPLTSV CYPQDLPRPL 

       250        260        270        280        290        300 
RSREFPQFEP QRYPACAQML PPNLSPHAPW NYHYHCPGSP DHQVPYGHDY PRAAYQQVIQ 

       310        320        330        340        350        360 
PALPGQPLPG ASVRGLHPVQ KVILNYPSPW DHEERPAQRD CSFPGLPRHQ DQPHHQPPNR 

       370        380        390        400        410        420 
AGAPGESLEC PAELRPQVPQ PPSPAAVPRP PSNPPARGTL KTSNLPEELR KVFITYSMDT 

       430        440        450        460        470        480 
AMEVVKFVNF LLVNGFQTAI DIFEDRIRGI DIIKWMERYL RDKTVMIIVA ISPKYKQDVE 

       490        500        510        520        530        540 
GAESQLDEDE HGLHTKYIHR MMQIEFIKQG SMNFRFIPVL FPNAKKEHVP TWLQNTHVYS 

       550        560        570 
WPKNKKNILL RLLREEEYVA PPRGPLPTLQ VVPL 

« Hide

Isoform 2 (C6ORF5) (C6ORF6) [UniParc].

Checksum: D585DABB3FCA8B1D
Show »

FASTA56563,585
Isoform 3 [UniParc].

Checksum: 7197AC2147A19690
Show »

FASTA15318,118
Isoform 4 [UniParc].

Checksum: 32083D194A68478D
Show »

FASTA10912,803
Isoform 5 [UniParc].

Checksum: C2592D267AD39699
Show »

FASTA56463,457

References

« Hide 'large scale' references
[1]"Cloning and characterization of two overlapping genes in a subregion at 6q21 involved in replicative senescence and schizophrenia."
Morelli C., Magnanini C., Mungall A.J., Negrini M., Barbanti-Brodano G.
Gene 252:217-225(2000) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2).
[2]"Act1, an NF-kappa B-activating protein."
Li X., Commane M., Nie H., Hua X., Chatterjee-Kishore M., Wald D., Haag M., Stark G.R.
Proc. Natl. Acad. Sci. U.S.A. 97:10489-10493(2000) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANT GLN-332.
Tissue: Embryonic kidney.
[3]"CIKS, a connection to Ikappa B kinase and stress-activated protein kinase."
Leonardi A., Chariot A., Claudio E., Cunningham K., Siebenlist U.
Proc. Natl. Acad. Sci. U.S.A. 97:10494-10499(2000) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
Tissue: Liver.
[4]"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. expand/collapse author list , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1; 2 AND 5), VARIANT GLN-332.
Tissue: Colon and Kidney.
[5]"The full-ORF clone resource of the German cDNA consortium."
Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I.
BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), VARIANT GLN-332.
Tissue: Uterus.
[6]"The DNA sequence and analysis of human chromosome 6."
Mungall A.J., Palmer S.A., Sims S.K., Edwards C.A., Ashurst J.L., Wilming L., Jones M.C., Horton R., Hunt S.E., Scott C.E., Gilbert J.G.R., Clamp M.E., Bethel G., Milne S., Ainscough R., Almeida J.P., Ambrose K.D., Andrews T.D. expand/collapse author list , Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beare D.M., Beasley H., Beasley O., Bird C.P., Blakey S.E., Bray-Allen S., Brook J., Brown A.J., Brown J.Y., Burford D.C., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Clark S.Y., Clark G., Clee C.M., Clegg S., Cobley V., Collier R.E., Collins J.E., Colman L.K., Corby N.R., Coville G.J., Culley K.M., Dhami P., Davies J., Dunn M., Earthrowl M.E., Ellington A.E., Evans K.A., Faulkner L., Francis M.D., Frankish A., Frankland J., French L., Garner P., Garnett J., Ghori M.J., Gilby L.M., Gillson C.J., Glithero R.J., Grafham D.V., Grant M., Gribble S., Griffiths C., Griffiths M.N.D., Hall R., Halls K.S., Hammond S., Harley J.L., Hart E.A., Heath P.D., Heathcott R., Holmes S.J., Howden P.J., Howe K.L., Howell G.R., Huckle E., Humphray S.J., Humphries M.D., Hunt A.R., Johnson C.M., Joy A.A., Kay M., Keenan S.J., Kimberley A.M., King A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C.R., Lloyd D.M., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M., Maslen G.L., Matthews L., McCann O.T., McLaren S.J., McLay K., McMurray A., Moore M.J.F., Mullikin J.C., Niblett D., Nickerson T., Novik K.L., Oliver K., Overton-Larty E.K., Parker A., Patel R., Pearce A.V., Peck A.I., Phillimore B.J.C.T., Phillips S., Plumb R.W., Porter K.M., Ramsey Y., Ranby S.A., Rice C.M., Ross M.T., Searle S.M., Sehra H.K., Sheridan E., Skuce C.D., Smith S., Smith M., Spraggon L., Squares S.L., Steward C.A., Sycamore N., Tamlyn-Hall G., Tester J., Theaker A.J., Thomas D.W., Thorpe A., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M., West A.P., White S.S., Whitehead S.L., Whittaker H., Wild A., Willey D.J., Wilmer T.E., Wood J.M., Wray P.W., Wyatt J.C., Young L., Younger R.M., Bentley D.R., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Dunham I., Rogers J., Beck S.
Nature 425:805-811(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[7]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], VARIANT GLN-332.
[8]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 2 AND 4), VARIANT GLN-332.
Tissue: Lymph.
[9]"NF-kappaB activator Act1 associates with IL-1/Toll pathway adaptor molecule TRAF6."
Kanamori M., Kai C., Hayashizaki Y., Suzuki H.
FEBS Lett. 532:241-246(2002) [PubMed] [Europe PMC] [Abstract]
Cited for: INTERACTION WITH TRAF6.
[10]"Common variants at TRAF3IP2 are associated with susceptibility to psoriatic arthritis and psoriasis."
Huffmeier U., Uebe S., Ekici A.B., Bowes J., Giardina E., Korendowych E., Juneblad K., Apel M., McManus R., Ho P., Bruce I.N., Ryan A.W., Behrens F., Lascorz J., Bohm B., Traupe H., Lohmann J., Gieger C. expand/collapse author list , Wichmann H.E., Herold C., Steffens M., Klareskog L., Wienker T.F., Fitzgerald O., Alenius G.M., McHugh N.J., Novelli G., Burkhardt H., Barton A., Reis A.
Nat. Genet. 42:996-999(2010) [PubMed] [Europe PMC] [Abstract]
Cited for: INVOLVEMENT IN SUSCEPTIBILITY TO PSORS13, VARIANT ASN-19, CHARACTERIZATION OF VARIANT ASN-19.
[11]"Genome-wide association study identifies a psoriasis susceptibility locus at TRAF3IP2."
Ellinghaus E., Ellinghaus D., Stuart P.E., Nair R.P., Debrus S., Raelson J.V., Belouchi M., Fournier H., Reinhard C., Ding J., Li Y., Tejasvi T., Gudjonsson J., Stoll S.W., Voorhees J.J., Lambert S., Weidinger S., Eberlein B. expand/collapse author list , Kunz M., Rahman P., Gladman D.D., Gieger C., Wichmann H.E., Karlsen T.H., Mayr G., Albrecht M., Kabelitz D., Mrowietz U., Abecasis G.R., Elder J.T., Schreiber S., Weichenthal M., Franke A.
Nat. Genet. 42:991-995(2010) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT PSORS13 ASN-19.
[12]"An ACT1 mutation selectively abolishes interleukin-17 responses in humans with chronic mucocutaneous candidiasis."
Boisson B., Wang C., Pedergnana V., Wu L., Cypowyj S., Rybojad M., Belkadi A., Picard C., Abel L., Fieschi C., Puel A., Li X., Casanova J.L.
Immunity 39:676-686(2013) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT CANDF8 ILE-536, CHARACTERIZATION OF VARIANT CANDF8 ILE-536.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AF136405 mRNA. Translation: AAF67445.1.
AF136406 mRNA. Translation: AAF67446.1.
AF136407 mRNA. Translation: AAF67447.1.
AF274303 mRNA. Translation: AAG15367.1.
AF272151 mRNA. Translation: AAG15407.1.
AK025351 mRNA. Translation: BAB15117.1.
AK026602 mRNA. Translation: BAB15507.1. Different initiation.
AK314415 mRNA. Translation: BAG37036.1.
AL050289 mRNA. Translation: CAB43390.1.
AL008730 Genomic DNA. Translation: CAA15506.1.
AL008730 Genomic DNA. Translation: CAA15507.1.
AL008730 Genomic DNA. Translation: CAD92596.1.
AL008730, Z97989 Genomic DNA. Translation: CAD92597.1.
Z97989, AL008730 Genomic DNA. Translation: CAI22298.1.
Z97989, AL008730 Genomic DNA. Translation: CAI22297.1.
CH471051 Genomic DNA. Translation: EAW48285.1.
CH471051 Genomic DNA. Translation: EAW48287.1.
BC002823 mRNA. Translation: AAH02823.1.
BI856094 mRNA. No translation available.
CCDSCCDS5093.1. [O43734-2]
CCDS55049.1. [O43734-4]
CCDS55050.1. [O43734-5]
PIRT08794.
RefSeqNP_001157753.1. NM_001164281.2. [O43734-5]
NP_001157755.1. NM_001164283.2. [O43734-4]
NP_679211.2. NM_147686.3. [O43734-2]
XP_006715382.1. XM_006715319.1. [O43734-4]
UniGeneHs.561514.
Hs.740602.

3D structure databases

ProteinModelPortalO43734.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid115979. 20 interactions.
IntActO43734. 7 interactions.
MINTMINT-143208.
STRING9606.ENSP00000345984.

PTM databases

PhosphoSiteO43734.

Proteomic databases

MaxQBO43734.
PaxDbO43734.
PRIDEO43734.

Protocols and materials databases

DNASU10758.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000340026; ENSP00000345984; ENSG00000056972. [O43734-1]
ENST00000359831; ENSP00000352889; ENSG00000056972. [O43734-5]
ENST00000368735; ENSP00000357724; ENSG00000056972. [O43734-4]
ENST00000368761; ENSP00000357750; ENSG00000056972. [O43734-2]
ENST00000392556; ENSP00000376339; ENSG00000056972. [O43734-3]
GeneID10758.
KEGGhsa:10758.
UCSCuc003pvf.4. human. [O43734-1]
uc011ebb.3. human. [O43734-4]

Organism-specific databases

CTD10758.
GeneCardsGC06M111877.
HGNCHGNC:1343. TRAF3IP2.
HPAHPA036352.
MIM607043. gene.
614070. phenotype.
615527. phenotype.
neXtProtNX_O43734.
Orphanet1334. Chronic mucocutaneous candidiasis.
PharmGKBPA25938.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG43147.
HOVERGENHBG002060.
InParanoidO43734.
OMANYPSPWD.
OrthoDBEOG7DVD9N.
PhylomeDBO43734.
TreeFamTF329063.

Enzyme and pathway databases

SignaLinkO43734.

Gene expression databases

ArrayExpressO43734.
BgeeO43734.
CleanExHS_TRAF3IP2.
GenevestigatorO43734.

Family and domain databases

InterProIPR013568. SEFIR.
[Graphical view]
PfamPF08357. SEFIR. 1 hit.
[Graphical view]
PROSITEPS51534. SEFIR. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiTRAF3IP2.
GenomeRNAi10758.
NextBio40857.
PROO43734.
SOURCESearch...

Entry information

Entry nameCIKS_HUMAN
AccessionPrimary (citable) accession number: O43734
Secondary accession number(s): B2RAY9 expand/collapse secondary AC list , E1P555, Q5R3A3, Q7Z6Q1, Q7Z6Q2, Q7Z6Q3, Q9H5W2, Q9H6Y3, Q9NS14, Q9UG72
Entry history
Integrated into UniProtKB/Swiss-Prot: April 27, 2001
Last sequence update: January 11, 2011
Last modified: July 9, 2014
This is version 128 of the entry and version 3 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 6

Human chromosome 6: entries, gene names and cross-references to MIM